Yline Capri

Laurence Faivre 6 collaborations

Alain Verloes 5 collaborations

Bertrand Isidor 5 collaborations

Hélène Cavé 5 collaborations

Didier Lacombe 4 collaborations

Jeanne Amiel 4 collaborations

Y Capri 4 collaborations

Elise Brischoux-Boucher 4 collaborations

Marie-Line Jacquemont 4 collaborations

Laurence Perrin 4 collaborations

Annick Toutain 4 collaborations

Boris Keren 4 collaborations

Juliette Piard 4 collaborations

Delphine Héron 4 collaborations

Catherine Vincent-Delorme 3 collaborations

Julien Thevenon 3 collaborations

Christel Thauvin-Robinet 3 collaborations

Valérie Cormier-Daire 3 collaborations

Klaus Dieterich 3 collaborations

Christine Francannet 3 collaborations

Marion Gerard 3 collaborations

Alice Goldenberg 3 collaborations

Stanislas Lyonnet 3 collaborations

Florence Petit 3 collaborations

Gabriella Vera 3 collaborations

Damien Sanlaville 3 collaborations

David Geneviève 3 collaborations

Marie Vincent 3 collaborations

Sandra Mercier 3 collaborations

Benjamin Cogné 3 collaborations

Caroline Nava 3 collaborations

Tiffany Busa 3 collaborations

Cyril Mignot 3 collaborations

None None 3 collaborations

Christophe Philippe 3 collaborations

Arthur Sorlin 3 collaborations

Gaetan Lesca 3 collaborations

Amélie Piton 3 collaborations

Geneviève Baujat 3 collaborations

Elise Schaefer 3 collaborations

Fanny Morice-Picard 2 collaborations

Fabienne Giuliano 2 collaborations

D Bessis 2 collaborations

F Morice-Picard 2 collaborations

E Bourrat 2 collaborations

C Abadie 2 collaborations

C Baumann 2 collaborations

M Best 2 collaborations

A-C Bursztejn 2 collaborations

C Chiaverini 2 collaborations

C Coubes 2 collaborations

F Giuliano 2 collaborations

S Hadj-Rabia 2 collaborations

M-L Jacquemont 2 collaborations

D Lacombe 2 collaborations

S Mallet 2 collaborations

J Mazereeuw-Hautier 2 collaborations

J Miquel 2 collaborations

N Molinari 2 collaborations

C Pernet 2 collaborations

N Philip 2 collaborations

L Pinson 2 collaborations

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A Verloes 2 collaborations

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Elodie Sanchez 2 collaborations

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Julien Buratti 2 collaborations

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Affiliations

Publications (32)

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome.

Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

Mowat Wilson syndrome and Hirschsprung disease: a retrospective study on functional outcomes.

Mitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations.

Oligo-astrocytoma in LZTR1-related Noonan syndrome.

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).

Deciphering the natural history of SCA7 in children.

Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.

Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.

Biallelic

Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.

Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data.

Germline bi-allelic

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature.

GM3 synthase deficiency in non-Amish patients.

SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.

Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.

Réseau de co-auteurs